GARS1 Chromosome 7
Glycyl-tRNA synthetase 1
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What This Gene Does
This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
7p14.3
Ensembl
ENSG00000106105
Associated Conditions (20)
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D
GARS1-related disorder
See cases
Neuronopathy
distal hereditary motor
type 5A
Distal spinal muscular atrophy
Ovarian serous cystadenocarcinoma
Tip-toe gait
type I
autosomal dominant
Spinal muscular atrophy
infantile
James type
Parkinsonian disorder
GARS-associated growth retardation and developmental delay
type 5
Inborn genetic diseases
Key Variants
RS1023871853
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1057519166
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1301948344
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
Health Risk
RS1303447354
Conflicting classifications of pathogenicity
See cases, Charcot-Marie-Tooth disease type 2, Neuronopathy
Health Risk
RS137852645
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease, Neuronopathy
Health Risk
RS137852647
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor
Health Risk
RS137852648
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2D
Health Risk
RS1388554818
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS150213018
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1554338264
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
RS1554338272
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
Health Risk
RS183573304
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765478968 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 5A |
| RS768987322 | Health Risk | Conflicting classifications of pathogenicity | Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D, Neuronopathy |
| RS773316961 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS774169230 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Parkinsonian disorder, Charcot-Marie-Tooth disease type 2 |
| RS775140242 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS77518956 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS777045330 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 5A |
| RS778219649 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 5A |
| RS779184435 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy |
| RS868796615 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS886043231 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS886062272 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2D, Distal spinal muscular atrophy, Neuronopathy |
| RS886062274 | Health Risk | Conflicting classifications of pathogenicity | Neuronopathy, distal hereditary motor, type 5A |
| RS901778260 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS988893052 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1060502839 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1554338641 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1584026191 | Health Risk | Likely pathogenic | Neuronopathy, distal hereditary motor, type 5A |
| RS2128134025 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2 |
| RS2128135098 | Health Risk | Likely pathogenic | — |
| RS863224873 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 2D, Neuronopathy, distal hereditary motor |
| RS1060502838 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor |
| RS1064795123 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS1135401747 | Health Risk | Pathogenic | GARS-associated growth retardation and developmental delay, GARS-associated growth retardation and developmental delay |
| RS1168737278 | Health Risk | Pathogenic | — |
| RS137852644 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 5A |
| RS137852646 | Health Risk | Pathogenic | Neuronopathy, distal hereditary motor, type 5A |
| RS1554337974 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Neuronopathy |
| RS1554338260 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease, Distal spinal muscular atrophy |
| RS1584034430 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Neuronopathy, distal hereditary motor |
| RS1783251037 | Health Risk | Pathogenic | Spinal muscular atrophy, infantile, James type |
| RS2534306033 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS797044855 | Health Risk | Pathogenic | Inborn genetic diseases, Spinal muscular atrophy, infantile |
| RS137852643 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease |
| RS1554337369 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2, Neuronopathy |
| RS1554338262 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2, Spinal muscular atrophy, infantile |
| RS2128134030 | Health Risk | Pathogenic/Likely pathogenic | Neuronopathy, distal hereditary motor, type 5A |